Linked Data
dbSNP Id:
rs1188005813
gnomAD v2:
11-17428491-A-T
gnomAD v3:
11-17406944-A-T
gnomAD v4:
11-17406944-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406944A>T , CM000673.2:g.17406944A>T | GRCh38 |
| NC_000011.9:g.17428491A>T , CM000673.1:g.17428491A>T | GRCh37 |
| NC_000011.8:g.17385067A>T | NCBI36 |
| NG_008867.1:g.74959T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2675T>A | ||
| ENST00000529967.6:n.1445T>A | ||
| ENST00000532220.2:n.838T>A | ||
| ENST00000642611.2:n.3175T>A | ||
| ENST00000645004.2:n.605T>A | ||
| ENST00000682051.1:n.3122T>A | ||
| ENST00000682110.1:n.3175T>A | ||
| ENST00000682140.1:c.3103T>A | ENSP00000507829.1:p.Trp1035Arg | |
| ENST00000682185.1:n.4411T>A | ||
| ENST00000682204.1:c.*1244T>A | ENSP00000507094.1:n.*1244T>A | |
| ENST00000682215.1:n.3172T>A | ||
| ENST00000682288.1:c.*1537T>A | ENSP00000507506.1:n.*1537T>A | |
| ENST00000682442.1:n.3296T>A | ||
| ENST00000682528.1:n.3252T>A | ||
| ENST00000682673.1:n.3119T>A | ||
| ENST00000682805.1:n.3172T>A | ||
| ENST00000682965.1:c.3103T>A | ENSP00000508229.1:p.Trp1035Arg | |
| ENST00000683093.1:n.3274T>A | ||
| ENST00000683136.1:c.3103T>A | ENSP00000507768.1:p.Trp1035Arg | |
| ENST00000683153.1:n.3331T>A | ||
| ENST00000683365.1:n.3277T>A | ||
| ENST00000683377.1:n.3175T>A | ||
| ENST00000683456.1:c.*243T>A | ENSP00000508318.1:n.*243T>A | |
| ENST00000683522.1:n.3175T>A | ||
| ENST00000683562.1:c.*1275T>A | ENSP00000508265.1:n.*1275T>A | |
| ENST00000683693.1:n.3252T>A | ||
| ENST00000683725.1:c.3106T>A | ENSP00000507496.1:p.Trp1036Arg | |
| ENST00000684010.1:n.3170T>A | ||
| ENST00000684157.1:n.3175T>A | ||
| ENST00000684253.1:n.3078T>A | ||
| ENST00000684288.1:c.*1278T>A | ENSP00000507143.1:n.*1278T>A | |
| ENST00000684313.1:n.2607T>A | ||
| ENST00000684332.1:n.3248T>A | ||
| ENST00000684371.1:n.3281T>A | ||
| ENST00000684404.1:n.3218T>A | ||
| ENST00000684442.1:n.3175T>A | ||
| ENST00000684555.1:c.*1318T>A | ENSP00000507705.1:n.*1318T>A | |
| ENST00000684571.1:c.2947T>A | ENSP00000506935.1:p.Trp983Arg | |
| ENST00000684593.1:c.*2811T>A | ENSP00000507005.1:n.*2811T>A | |
| ENST00000684711.1:c.*1502T>A | ENSP00000506841.1:n.*1502T>A | |
| ENST00000302539.9:c.3109T>A | ENSP00000303960.4:p.Trp1037Arg | |
| ENST00000389817.8:c.3106T>A MANE Select | ENSP00000374467.4:p.Trp1036Arg | |
| ENST00000642271.1:c.3103T>A | ENSP00000493749.1:p.Trp1035Arg | |
| ENST00000642579.1:c.1190T>A | ||
| ENST00000642611.1:n.3060T>A | ||
| ENST00000642902.1:c.2888T>A | ||
| ENST00000643260.1:c.3106T>A | ENSP00000494450.1:p.Trp1036Arg | |
| ENST00000643562.1:c.*1082T>A | ENSP00000496124.1:n.*1082T>A | |
| ENST00000643925.1:c.1230T>A | ||
| ENST00000644447.1:c.1462T>A | ENSP00000496282.1:p.Trp488Arg | |
| ENST00000644484.1:c.*1361T>A | ENSP00000493558.1:n.*1361T>A | |
| ENST00000644542.1:c.*2811T>A | ENSP00000495532.1:n.*2811T>A | |
| ENST00000644675.1:c.*1278T>A | ENSP00000494567.1:n.*1278T>A | |
| ENST00000644757.1:c.*1391T>A | ENSP00000495085.1:n.*1391T>A | |
| ENST00000644772.1:c.3172T>A | ENSP00000494321.1:p.Trp1058Arg | |
| ENST00000645004.1:n.245T>A | ||
| ENST00000645076.1:c.2305T>A | ||
| ENST00000645417.1:c.272T>A | ||
| ENST00000645744.1:c.*1370T>A | ENSP00000494564.1:n.*1370T>A | |
| ENST00000645760.1:c.3381T>A | ||
| ENST00000645884.1:c.*243T>A | ENSP00000495516.1:n.*243T>A | |
| ENST00000646003.1:c.*1062T>A | ENSP00000495259.1:n.*1062T>A | |
| ENST00000646207.1:c.*1573T>A | ENSP00000495025.1:n.*1573T>A | |
| ENST00000646276.1:c.*1379T>A | ENSP00000496070.1:n.*1379T>A | |
| ENST00000646592.1:c.2412T>A | ||
| ENST00000646902.1:c.3103T>A | ENSP00000494101.1:p.Trp1035Arg | |
| ENST00000646993.1:c.*1502T>A | ENSP00000493720.1:n.*1502T>A | |
| ENST00000647013.1:c.3112T>A | ENSP00000496741.1:n.3112T>A | |
| ENST00000647015.1:c.2857T>A | ENSP00000495389.1:p.Trp953Arg | |
| ENST00000647086.1:c.*2836T>A | ENSP00000493677.1:n.*2836T>A | |
| ENST00000647158.1:c.*1247T>A | ENSP00000495744.1:n.*1247T>A | |
| ENST00000302539.8:c.3109T>A | ENSP00000303960.4:p.Trp1037Arg | |
| ENST00000389817.7:c.3106T>A | ENSP00000374467.3:p.Trp1036Arg | |
| ENST00000524561.1:n.238T>A | ||
| ENST00000526921.5:n.790T>A | ||
| ENST00000527905.5:c.2976T>A | ENSP00000431653.1:p.Ser992Arg | |
| ENST00000529967.5:n.775T>A | ||
| NM_000352.4:c.3106T>A | NP_000343.2:p.Trp1036Arg | |
| NM_001287174.1:c.3109T>A | NP_001274103.1:p.Trp1037Arg | |
| XM_011520331.1:c.3106T>A | XP_011518633.1:p.Trp1036Arg | |
| XM_011520332.1:c.3109T>A | XP_011518634.1:p.Trp1037Arg | |
| XM_011520333.1:c.1606T>A | XP_011518635.1:p.Trp536Arg | |
| XR_930890.1:n.3172T>A | ||
| XR_930891.1:n.3172T>A | ||
| XR_930892.1:n.3072T>A | ||
| XR_930893.1:n.3069T>A | ||
| NM_001351295.1:c.3172T>A | NP_001338224.1:p.Trp1058Arg | |
| NM_001351296.1:c.3106T>A | NP_001338225.1:p.Trp1036Arg | |
| NM_001351297.1:c.3103T>A | NP_001338226.1:p.Trp1035Arg | |
| NR_147094.1:n.3255T>A | ||
| XM_017018197.2:c.3175T>A | XP_016873686.1:p.Trp1059Arg | |
| XM_017018199.1:c.3172T>A | XP_016873688.1:p.Trp1058Arg | |
| XM_017018201.2:c.3175T>A | XP_016873690.1:p.Trp1059Arg | |
| XM_017018202.1:c.1672T>A | XP_016873691.1:p.Trp558Arg | |
| XM_017018204.1:c.1063T>A | XP_016873693.1:p.Trp355Arg | |
| XM_024448668.1:c.1474T>A | XP_024304436.1:p.Trp492Arg | |
| XR_001747945.2:n.3247T>A | ||
| XR_001747946.2:n.3178T>A | ||
| XR_002957189.1:n.3327T>A | ||
| NM_000352.6:c.3106T>A MANE Select | NP_000343.2:p.Trp1036Arg | |
| NM_001287174.2:c.3109T>A | NP_001274103.1:p.Trp1037Arg | |
| NM_001351295.2:c.3172T>A | NP_001338224.1:p.Trp1058Arg | |
| NM_001351296.2:c.3106T>A | NP_001338225.1:p.Trp1036Arg | |
| NM_001351297.2:c.3103T>A | NP_001338226.1:p.Trp1035Arg | |
| NR_147094.2:n.3255T>A | ||
| NM_001287174.3:c.3109T>A | NP_001274103.1:p.Trp1037Arg |